Skip to main content

Perinatal Genetics Programme

Overview

The AKUH Perinatal Genetics Programme is dedicated to providing comprehensive care for expectant parents with concerns about potential genetic conditions in their unborn baby. We offer a range of services and expertise to guide you through informed decision-making during pregnancy.

Conditions We Screen and Monitor

Our programme addresses a wide range of genetic and congenital conditions, including:

  • Chromosomal abnormalities such as Down syndrome.

  • Single-gene disorders like cystic fibrosis, sickle cell disease, and thalassemia.

  • Structural anomalies including congenital heart defects, neural tube defects, and cleft lip/palate.

  • Metabolic disorders such as phenylketonuria (PKU) and maple syrup urine disease.

  • Other hereditary conditions that may affect the health and development of the foetus.

To learn more about our highly trained and skilled experts, search on Find a Doctor under the speciality of Paediatric Genetics and Metabolics. ​

We understand that navigating your family planning and pregnancy journey with genetic concerns can be overwhelming. The AKUH Perinatal Genetics Programme is here to provide you with the knowledge, support, and resources you need to make informed choices for a healthy pregnancy.

© 2026 The Aga Khan University Hospital, Pakistan. All Rights Reserved.